Canonical Allele Identifier: PA2829713846
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_015557.2:p.Met80Ile
CA390303232
NM_007318.3:c.240G>A
CA390303235
NM_007318.3:c.240G>C
CA390303237
NM_007318.3:c.240G>T